lipochondrodystrophy — n. multiple congenital defects affecting lipid (fat) metabolism, cartilage and bone, skin, and the major internal organs, leading to mental retardation, dwarfism, and deformities of the bones … The new mediacal dictionary
lipochondrodystrophy — noun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation • Syn: ↑Hurler s syndrome, ↑Hurler s … Useful english dictionary
Липохондродистрофия (Lipochondrodystrophy) — множественные врожденные дефекты, связанные с врожденными нарушениями липидного (жирового) обмена, поражением хрящевой и костной ткани, кожи, а также различных внутренних органов и приводящие к задержке умственного развития, карликовости и… … Медицинские термины
ЛИПОХОНДРОДИСТРОФИЯ — (lipochondrodystrophy) множественные врожденные дефекты, связанные с врожденными нарушениями липидного (жирового) обмена, поражением хрящевой и костной ткани, кожи, а также различных внутренних органов и приводящие к задержке умственного развития … Толковый словарь по медицине
mucopolysaccharidosis — Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
dysostosis multiplex — noun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation • Syn: ↑Hurler s syndrome, ↑Hurler s … Useful english dictionary
Hurler's disease — noun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation • Syn: ↑Hurler s syndrome,… … Useful english dictionary
monogenic disease — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ … Useful english dictionary
monogenic disorder — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ … Useful english dictionary